chr11:116768388:A>T Detail (hg38) (BUD13)

Information

Genome

Assembly Position
hg19 chr11:116,639,104-116,639,104 View the variant detail on this assembly version.
hg38 chr11:116,768,388-116,768,388

HGVS

Type Transcript Protein
RefSeq NM_032725.3:c.237+1741T>A
NM_001159736.1:c.237+1741T>A
Ensemble ENST00000260210.5:c.237+1741T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 620691 OMIM
HGNC 28199 HGNC
Ensembl ENSG00000137656 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hypercholesterolemia The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significant... BeFree 24780069 Detail
0.123 Metabolic syndrome X [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... GAD 21386085 Detail
0.123 Metabolic syndrome X A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GWASCAT 21386085 Detail
<0.001 Hypercholesterolemia On single locus analysis, only BUD13 rs10790162 was associated with HCH (OR: 2.2... BeFree 24780069 Detail
Annotation

Annotations

DescrptionSourceLinks
The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significantly associated with s... DisGeNET Detail
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... DisGeNET Detail
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. DisGeNET Detail
On single locus analysis, only BUD13 rs10790162 was associated with HCH (OR: 2.23, 95% CI: 1.05, 4.7... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10790162 dbSNP
Genome
hg38
Position
chr11:116,768,388-116,768,388
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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